Benign hereditary chorea, not only chorea: a family case presentation.

ABSTRACT:

Background

Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14.

Case presentation

A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patie

SUBMITTER: Koht J 

PROVIDER: S-EPMC4736661 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature